{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T18:16:32Z","timestamp":1790619392380,"version":"4.1.0"},"reference-count":46,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2014,12,4]],"date-time":"2014-12-04T00:00:00Z","timestamp":1417651200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001826","name":"Netherlands Organisation for Health Research and Development","doi-asserted-by":"publisher","award":["9120.6002"],"award-info":[{"award-number":["9120.6002"]}],"id":[{"id":"10.13039\/501100001826","id-type":"DOI","asserted-by":"publisher"}]},{"name":"E-Rare","award":["11-330-1024"],"award-info":[{"award-number":["11-330-1024"]}]},{"DOI":"10.13039\/501100008358","name":"Hersenstichting","doi-asserted-by":"crossref","award":["15F07.30, 2009[2]-14 and 2011(1)-15)"],"award-info":[{"award-number":["15F07.30, 2009[2]-14 and 2011(1)-15)"]}],"id":[{"id":"10.13039\/501100008358","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Optimix Foundation for Scientific Research","award":["-"],"award-info":[{"award-number":["-"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2015,1]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      Megalencephalic leukoencephalopathy with cysts (MLC) is a genetic disease characterized by infantile onset white matter edema and delayed onset neurological deterioration. Loss of MLC1 function causes MLC. MLC1 is involved in ion\u2013water homeostasis, but its exact role is unknown. We generated\n                      <jats:italic>Mlc1<\/jats:italic>\n                      \u2010null mice for further studies.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We investigated which brain cell types express MLC1, compared developmental expression in mice and men, and studied the consequences of loss of MLC1 in\n                      <jats:italic>Mlc1<\/jats:italic>\n                      \u2010null mice.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Like humans, mice expressed MLC1 only in astrocytes, especially those facing fluid\u2013brain barriers. In mice, MLC1 expression increased until 3 weeks and then stabilized. In humans, MLC1 expression was highest in the first year, decreased, and stabilized from approximately 5 years.\n                      <jats:italic>Mlc1\u2010<\/jats:italic>\n                      null mice had early onset megalencephaly and increased brain water content. From 3 weeks, abnormal astrocytes were present with swollen processes abutting fluid\u2013brain barriers. From 3 months, widespread white matter vacuolization with intramyelinic edema developed.\n                      <jats:italic>Mlc1<\/jats:italic>\n                      \u2010null astrocytes showed slowed regulatory volume decrease and reduced volume\u2010regulated anion currents, which increased upon MLC1 re\u2010expression.\n                      <jats:italic>Mlc1<\/jats:italic>\n                      \u2010null astrocytes showed reduced expression of adhesion molecule GlialCAM and chloride channel ClC\u20102, but no substantial changes in other known MLC1\u2010interacting proteins.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>\n                      <jats:italic>Mlc1\u2010<\/jats:italic>\n                      null mice replicate early stages of the human disease with early onset intramyelinic edema. The cellular functional defects, described for human MLC, were confirmed. The earliest change was astrocytic swelling, substantiating that in MLC the primary defect is in volume regulation by astrocytes. MLC1 expression affects expression of GlialCAM and ClC\u20102. Abnormal interplay between these proteins is part of the pathomechanisms of MLC. ANN NEUROL 2015;77:114\u2013131\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ana.24307","type":"journal-article","created":{"date-parts":[[2014,11,7]],"date-time":"2014-11-07T11:28:47Z","timestamp":1415359727000},"page":"114-131","source":"Crossref","is-referenced-by-count":79,"title":["Mice with megalencephalic leukoencephalopathy with cysts: A developmental angle"],"prefix":"10.1002","volume":"77","author":[{"given":"Mohit","family":"Dubey","sequence":"first","affiliation":[{"name":"Department of Pediatrics\/Child Neurology Neuroscience Campus Amsterdam, VU University Medical Center"},{"name":"Department of Integrative Neurophysiology Center for Neurogenomics and Cognitive Research, VU University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianna","family":"Bugiani","sequence":"additional","affiliation":[{"name":"Department of Pediatrics\/Child Neurology Neuroscience Campus Amsterdam, VU University Medical Center"},{"name":"Department of Pathology VU University Medical Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margreet C.","family":"Ridder","sequence":"additional","affiliation":[{"name":"Department of Pediatrics\/Child Neurology Neuroscience Campus Amsterdam, VU University Medical Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nienke L.","family":"Postma","sequence":"additional","affiliation":[{"name":"Department of Pediatrics\/Child Neurology Neuroscience Campus Amsterdam, VU University Medical Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eelke","family":"Brouwers","sequence":"additional","affiliation":[{"name":"Department of Pediatrics\/Child Neurology Neuroscience Campus Amsterdam, VU University Medical Center"},{"name":"Department of Integrative Neurophysiology Center for Neurogenomics and Cognitive Research, VU University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emiel","family":"Polder","sequence":"additional","affiliation":[{"name":"Department of Pediatrics\/Child Neurology Neuroscience Campus Amsterdam, VU University Medical Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. Gerbren","family":"Jacobs","sequence":"additional","affiliation":[{"name":"Department of Pediatrics\/Child Neurology Neuroscience Campus Amsterdam, VU University Medical Center"},{"name":"Department of Functional Genomics Center for Neurogenomics and Cognitive Research, VU University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes C.","family":"Baayen","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery VU University Medical Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Klooster","sequence":"additional","affiliation":[{"name":"Department of Retinal Signal Processing Netherlands Institute for Neuroscience\u2010KNAW Amsterdam Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maarten","family":"Kamermans","sequence":"additional","affiliation":[{"name":"Department of Retinal Signal Processing Netherlands Institute for Neuroscience\u2010KNAW Amsterdam Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Romy","family":"Aardse","sequence":"additional","affiliation":[{"name":"Department of Integrative Neurophysiology Center for Neurogenomics and Cognitive Research, VU University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christiaan P. 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